Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1.
Charcot-Marie-Tooth
HSN1
SPTLC2
YARS
axon degeneration
demyelination
inherited peripheral neuropathy
sphingolipid synthesis
tRNA synthetase
Journal
Journal of anatomy
ISSN: 1469-7580
Titre abrégé: J Anat
Pays: England
ID NLM: 0137162
Informations de publication
Date de publication:
Nov 2022
Nov 2022
Historique:
revised:
23
11
2021
received:
04
08
2021
accepted:
26
11
2021
pubmed:
8
12
2021
medline:
15
10
2022
entrez:
7
12
2021
Statut:
ppublish
Résumé
Animal models of neurodegenerative diseases such as inherited peripheral neuropathies sometimes accurately recreate the pathophysiology of the human disease, and sometimes accurately recreate the genetic perturbations found in patients. Ideally, models achieve both, but this is not always possible; nonetheless, such models are informative. Here we describe two animal models of inherited peripheral neuropathy: mice with a mutation in tyrosyl tRNA-synthetase, Yars
Identifiants
pubmed: 34875719
doi: 10.1111/joa.13605
pmc: PMC9170831
mid: NIHMS1760531
doi:
Substances chimiques
RNA, Transfer
9014-25-9
SPTLC1 protein, human
EC 2.3.1.50
Serine C-Palmitoyltransferase
EC 2.3.1.50
Ligases
EC 6.-
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
1169-1185Subventions
Organisme : NINDS NIH HHS
ID : R37 NS054154
Pays : United States
Organisme : European Joint Programme on Rare Diseases
ID : EJP RD+SNF 32ER30_187505
Organisme : NINDS NIH HHS
ID : R01 NS113583
Pays : United States
Organisme : NINDS NIH HHS
ID : R24 NS098523
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA034196
Pays : United States
Organisme : Swiss National Science Foundation
ID : SNF 31003A_179371
Pays : Switzerland
Informations de copyright
© 2021 Anatomical Society.